Canonical Allele Identifier: CA2277818153
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118660_80118662delinsTCG , CM000679.2:g.80118660_80118662delinsTCG GRCh38
NC_000017.10:g.78092459_78092461delinsTCG , CM000679.1:g.78092459_78092461delinsTCG GRCh37
NC_000017.9:g.75707054_75707056delinsTCG NCBI36
NG_009822.1:g.22105_22107delinsTCG , LRG_673:g.22105_22107delinsTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2654_2656delinsTCG ENSP00000460543.2:p.Ile885=
ENST00000572080.2:c.*792_*794delinsTCG ENSP00000459972.2:n.*792_*794delinsTCG
ENST00000577106.6:c.2654_2656delinsTCG ENSP00000458306.2:p.Ile885=
ENST00000302262.8:c.2654_2656delinsTCG MANE Select ENSP00000305692.3:p.Ile885=
ENST00000302262.7:c.2654_2656delinsTCG ENSP00000305692.3:p.Ile885=
ENST00000390015.7:c.2654_2656delinsTCG ENSP00000374665.3:p.Ile885=
ENST00000573556.1:n.607_609delinsTCG
NM_000152.3:c.2654_2656delinsTCG , LRG_673t1:c.2654_2656delinsTCG NP_000143.2:p.Ile885=
NM_001079803.1:c.2654_2656delinsTCG NP_001073271.1:p.Ile885=
NM_001079804.1:c.2654_2656delinsTCG NP_001073272.1:p.Ile885=
XM_005257193.1:c.2654_2656delinsTCG XP_005257250.1:p.Ile885=
XM_005257194.3:c.2654_2656delinsTCG XP_005257251.1:p.Ile885=
NM_000152.4:c.2654_2656delinsTCG NP_000143.2:p.Ile885=
NM_001079803.2:c.2654_2656delinsTCG NP_001073271.1:p.Ile885=
NM_001079804.2:c.2654_2656delinsTCG NP_001073272.1:p.Ile885=
XM_005257193.2:c.2654_2656delinsTCG XP_005257250.1:p.Ile885=
XM_005257194.4:c.2654_2656delinsTCG XP_005257251.1:p.Ile885=
NM_000152.5:c.2654_2656delinsTCG MANE Select NP_000143.2:p.Ile885=
NM_001079803.3:c.2654_2656delinsTCG NP_001073271.1:p.Ile885=
NM_001079804.3:c.2654_2656delinsTCG NP_001073272.1:p.Ile885=
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